HomozygousSMN1 deletions in unaffected family members and modification of the phenotype bySMN2
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference18 articles.
1. Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
2. When Is a Deletion Not a Deletion? When It Is Converted
3. Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype
4. Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
Cited by 139 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands;Neuromuscular Disorders;2024-01
2. Gentherapien bei den Motoneuronerkrankungen ALS und SMA;Fortschritte der Neurologie · Psychiatrie;2023-02-23
3. Neonatal and infantile hypotonia;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023
4. Spinal cord motor disorders;Handbook of Clinical Neurology;2023
5. Experience of Nusinersen in children with proximal spinal muscular atrophy 5q in Moscow region;Russian Journal of Child Neurology;2022-12-17
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3